טוען...
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome
Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. While mutations in POLG1, the gene encoding the gamma subunit of the mitochondrial DNA polymerase, have been associated with A...
שמור ב:
| הוצא לאור ב: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BlackWell Publishing Ltd
2015
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4299715/ https://ncbi.nlm.nih.gov/pubmed/25629079 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.115 |
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